Holt-Oram Syndrome Associated with Aortic Atresia: A Rare Association.
Heart Views
; 17(1): 27-9, 2016.
Article
em En
| MEDLINE
| ID: mdl-27293527
ABSTRACT
Holt-Oram syndrome (HOS) is a rare autosomal dominant disorder that causes abnormalities of the upper limbs and heart. It is seen in 11, 00, 000 live births. It is linked to a single-gene TBX5 "protein-producing" mutation with gene map locus 12q24. Most commonly it is characterized by the cardiac septation defects and pre-axial radial ray abnormalities. We are reporting a case of HOS with aortic atresia which is a rare association.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Tipo de estudo:
Risk_factors_studies
Idioma:
En
Revista:
Heart Views
Ano de publicação:
2016
Tipo de documento:
Article
País de afiliação:
Índia